Methylenetetrahydrofolate dehydrogenase (MTHFD) enzyme polymorphism as a maternal risk factor for trisomy 21: a clinical study.

Abstract

Recent reports linking Down syndrome (DS) to maternal polymorphism at the methylenetetrahydrofolate dehydrogenase (MTHFD) locus have generated a great interest among investigators in the field. In the current study, we examine one genetic polymorphism involved in homocysteine/folate pathway as a risk factor for DS in a Romanian urban-area women cohort. Our results show that the frequencies of MTHFD1 alleles, as well as the frequencies of MTHFD11958 genotypes (GG, GA, AA, GA+AA) do not correlate with DS pregnancies, demonstrating no difference between the case and control groups, as opposed to the findings of Scala et al. (2006) on an Italian cohort.

• Authors: Daniela Neagos, Ruxandra Cretu, Andreea Tutulan-Cunita, Veronica Stoian, Laurentiu Camil Bohiltea
• Journal: Journal of medicine and life (J Med Life) 2010 Oct-Dec Vol. 3 Issue 4 Pg. 454-7 ISSN: 1844-122X [Print] Romania
• PMID: 21254748 (Publication Type: Journal Article)

Chemical References

• Minor Histocompatibility Antigens
• MTHFD1 protein, human
• Methylenetetrahydrofolate Dehydrogenase (NADP)

Topics

• Adult
• Down Syndrome (epidemiology)
• Female
• Gene Frequency
• Genetic Predisposition to Disease (epidemiology)
• Genotype
• Humans
• Infant
• Methylenetetrahydrofolate Dehydrogenase (NADP) (genetics)
• Minor Histocompatibility Antigens
• Polymorphism, Restriction Fragment Length
• Pregnancy
• Risk Factors
• Romania (epidemiology)
• Urban Population (statistics & numerical data)